PXE International Research
This is an exciting time for PXE research. The gene associated with PXE was identified 20 years ago and genetic testing for PXE is available.
PXE International has a new disease research portal, Please sign-up or log-in to share your experience with, and knowledge of pseudoxanthoma elasticum. This is our one-stop shop for research, and we'll be expanding our studies over time.
Other PXE research projects include clinical studies: determining what characterizes PXE, how it progresses, and what changes it causes in various systems of the body. Several animal models of PXE, including zebra fish, mice, and rat, enable us to study potential treatments for PXE. We have conducted a few clinical trials and have several potential treatments in the pipeline.
Retinal research is advancing quickly. There are many projects looking at angioid streaks, retinal bleeding, and what can be used to alleviate the bleeding and loss of vision that often follows.
What are Clinical Trials?
Clinical trials are structured research experiments used to advance medical knowledge and patient care. This means that there is a very clear and well-formulated process to test something that might be useful in treating a condition. Trials often investigate new treatments, interventions, therapies and approaches to a disease or symptom. They might also compare the effectiveness of different treatments — for example, does one drug relieve leg cramping more than another?
Clinical trials are the way that we gather evidence to determine whether or not something works, and how well it works.
The participants in clinical trials are sometimes called Heroes because they are testing something that is unknown. It is important that the drug or therapy is tested in as safe a manner as possible. The principal investigator of a clinical trial is responsible for human safety and for only conducting a trial when they are sure it is safe.
The most scientifically sound way to determine safety is by conducting a great deal of testing in cells and in animals before testing on humans. This testing results in a clear sense of whether a drug is safe in a specific population with a specific disease. A drug may even already be widely used as treatment for a certain condition, but it must be tested in cells and animals that mimic the issues or disease of the specific population.
Examples
For example, there are three drugs that are under consideration for use in people affected by pseudoxanthoma elasticum (PXE):
- Magnesium
- Bisphosphonates
- Sodium 4-phenylbutyrate (4-PBA)
Of these three, only magnesium has been extensively tested in cells and in mice that have the ABCC6 gene knocked out. There is an approved clinical trial for magnesium underway at Mt. Sinai Hospital in New York.
Bisphosphonates and 4-PBA have not undergone extensive testing in cells and other organisms. While these treatments are used for other conditions, it is still difficult to determine whether or not the complicated problems that PXE causes will negatively affect human cellular function and other organisms when exposed to these drugs.
Informed Consent
Informed consent is the process in which researchers are required by law to inform potential and enrolled participants with the necessary information about the study. This should not be a one-time event, but a process of keeping you engaged in the ongoing status of the study.